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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: pereda a. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Brachydactyly E: isolated or as a feature of a syndrome.
Pereda A, Garin I, Garcia-Barcina M, Gener B, Beristain E, Ibañez AM, Perez de Nanclares G. Pereda A, et al. Orphanet J Rare Dis. 2013 Sep 12;8:141. doi: 10.1186/1750-1172-8-141. Orphanet J Rare Dis. 2013. PMID: 24028571 Free PMC article. Review.
The p.R56* mutation in PTHLH causes variable brachydactyly type E.
Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G. Pereda A, et al. Am J Med Genet A. 2017 Mar;173(3):816-819. doi: 10.1002/ajmg.a.38067. Am J Med Genet A. 2017. PMID: 28211986 No abstract available.
[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].
Travieso-Suárez L, Pereda A, Pozo-Román J, Pérez de Nanclares G, Argente J. Travieso-Suárez L, et al. Among authors: pereda a. An Pediatr (Engl Ed). 2018 Feb;88(2):107-109. doi: 10.1016/j.anpedi.2017.03.001. Epub 2017 Apr 5. An Pediatr (Engl Ed). 2018. PMID: 28391997 Free article. Spanish. No abstract available.
Progressive osseous heteroplasia caused by a mosaic GNAS mutation.
Pereda A, Martos-Tello JM, Garin I, Errea-Dorronsoro J, Perez de Nanclares G. Pereda A, et al. Clin Endocrinol (Oxf). 2018 Jun;88(6):993-995. doi: 10.1111/cen.13584. Epub 2018 Mar 25. Clin Endocrinol (Oxf). 2018. PMID: 29464731 No abstract available.
193 results